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Metadata
DOID DOID:0060848
Name early infantile epileptic encephalopathy 9
Definition An early infantile epileptic encephalopathy that has_material_basis_in the gene encoding protocadherin-19 (PCDH19) on chromosome Xq22.
https://www.ncbi.nlm.nih.gov/pubmed/18469813, https://www.ncbi.nlm.nih.gov/pubmed/19752159
Synonyms

early infantile female-limited epilecptic encephalopathy [EXACT]

EFMR [EXACT]

EIEE9 [EXACT]

female restricted epilepsy with mental retardation [EXACT]

Juberg Hellman syndrome [EXACT]

Xrefs

GARD:10806

OMIM:300088

ORDO:101039

Relationships

is_a early infantile epileptic encephalopathy

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